Revel Score:
ENST00000268261 (MANE Select)
0.971
ENST00000539622
0.971
ENST00000537352
0.971
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006234 (AFR)
Genomes Max Group AF
0.00006282 (AFR)
Exomes Max Group AF
0.00002375 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847794C>T , CM000678.2:g.8847794C>T | GRCh38 |
| NC_000016.9:g.8941651C>T , CM000678.1:g.8941651C>T | GRCh37 |
| NC_000016.8:g.8849152C>T | NCBI36 |
| NG_009209.1:g.54982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3878C>T | ||
| ENST00000682393.1:c.*258-1575C>T | ENSP00000506774.1:n.*258-1575C>T | |
| ENST00000683094.1:c.*262-1575C>T | ENSP00000508230.1:n.*262-1575C>T | |
| ENST00000683274.1:c.*180-1575C>T | ENSP00000507262.1:n.*180-1575C>T | |
| ENST00000683435.1:c.*606C>T | ENSP00000508092.1:n.*606C>T | |
| ENST00000268261.9:c.710C>T MANE Select | ENSP00000268261.4:p.Thr237Met | |
| ENST00000268261.8:c.710C>T | ENSP00000268261.4:p.Thr237Met | |
| ENST00000562025.1:n.244C>T | ||
| ENST00000562318.5:c.*432C>T | ENSP00000454395.1:n.*432C>T | |
| ENST00000565221.5:c.*328C>T | ENSP00000457932.1:n.*328C>T | |
| ENST00000566540.5:c.*332C>T | ENSP00000454284.1:n.*332C>T | |
| ENST00000566604.5:c.*250C>T | ENSP00000456774.1:n.*250C>T | |
| ENST00000566983.5:c.629C>T | ENSP00000457956.1:p.Thr210Met | |
| ENST00000567697.1:n.3878C>T | ||
| ENST00000569958.5:c.437C>T | ENSP00000456302.1:p.Thr146Met | |
| ENST00000570076.5:c.*168C>T | ENSP00000456961.1:n.*168C>T | |
| NM_000303.2:c.710C>T | NP_000294.1:p.Thr237Met | |
| XM_005255374.3:c.461C>T | XP_005255431.1:p.Thr154Met | |
| XM_011522538.1:c.640-7240C>T | XP_011520840.1:n.640-7240C>T | |
| XM_005255374.4:c.461C>T | XP_005255431.1:p.Thr154Met | |
| NM_000303.3:c.710C>T MANE Select | NP_000294.1:p.Thr237Met |